Disease #00173 (SLOS (Smith-Lemli-Opitz syndrome (SLOS)), OMIM:270400)

Official abbreviation	SLOS
Name	Smith-Lemli-Opitz syndrome (SLOS)
OMIM ID	270400
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	454
Phenotype entries for this disease	460
Associated with 1 gene	DHCR7
Associated tissues	-
Disease features	-
Remarks	-

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

454 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00001956	-	-	-	M	?	Germany	-	-	-	-	-	SLOS	2-3 toe syndactyly; hexadactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001957	-	-	-	F	?	Germany	white	-	-	-	-	SLOS	ascertainment clinical presentation	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001958	-	-	-	M	?	Germany	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly	APOE, DHCR7	APOE, BRCA1, BRCA2, DHCR7	19	1	Division of Human Genetics, Innsbruck
00001959	-	-	-	F	?	Germany	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001960	-	-	-	M	?	Germany	white	-	-	-	-	SLOS	2-3 toe syndactyly; hexadactyly; microcephaly; agenesis of corpus callosum	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001961	-	-	-	F	?	Germany;Turkey	white	-	-	-	-	SLOS	ascertainment clinical presentation	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001962	-	-	-	M	?	Germany	white	-	-	-	-	SLOS	2-3 toe syndactyly	DHCR7	DHCR7, EYS	3	1	Division of Human Genetics, Innsbruck
00001963	-	-	-	M	?	Germany	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001964	-	-	-	F	?	Germany	white	-	-	-	-	SLOS	ascertainment clinical presentation; hexadactyly; microcephaly	APOE, DHCR7	APOE, BRCA1, BRCA2, DHCR7	18	1	Division of Human Genetics, Innsbruck
00001965	-	-	-	F	?	Germany	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly; Hexadactyly; hypoplasia of the corpus callosum	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001966	-	-	-	F	?	Germany	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly	APOE, DHCR7	APOE, BRCA1, BRCA2, DHCR7	24	1	Division of Human Genetics, Innsbruck
00001967	-	-	-	M	?	Germany	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001968	-	-	-	F	?	-	-	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001969	-	-	-	M	?	Germany;Poland	white	-	-	-	-	SLOS	2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001970	-	-	-	M	?	Germany	white	-	-	-	-	SLOS	ascertainment clinical presentation	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001971	-	-	-	M	?	Germany;Poland	white	-	-	-	-	SLOS	ascertainment clinical presentation; postaxial polydactyly, 2-3 toe syndactyly, hypospadia, decreased head circumference	APOE, DHCR7	APOE, DHCR7	3	1	Division of Human Genetics, Innsbruck
00001972	-	-	-	M	?	Germany	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001973	-	-	-	M	?	Germany	white	-	-	-	-	SLOS	ascertainment clinical presentation	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001974	-	-	-	M	?	? (unknown);Germany	white	-	-	-	-	SLOS	diagnosis fetal	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001975	-	-	-	M	?	Germany	white	-	-	-	-	SLOS	diagnosis fetal; ascertainment clinical presentation; postaxial polydactyly of left hand and both feet, 2-4 toe syndactyly, hypospadia, multiple heart defects, lung hypoplasia, hypertelorism, facial dysmorphisms,	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001976	-	-	-	M	?	Germany	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly; hexadactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001977	-	-	-	M	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	ascertainment clinical presentation; severe	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001978	-	-	since age of 2 years diet at cholesterol; brother is A23	F	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	ascertainment family analysis; facial similarities to her brother, Head circumfrence < 1 SD, hyperactive, aggressive, cleft soft palate, pyloric stenosis	DHCR7	DHCR7	1	1	Division of Human Genetics, Innsbruck
00001979	-	PubMed: Nezarati 2002	brother of Patient#0000027	M	?	Lebanon	white	-	-	-	-	SLOS	ascertainment clinical presentation; microcephaly, developmental delay,minor facial anomalies, minimal 2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001980	-	PubMed: Nezarati 2002	sister of Patient#0000026	F	?	Lebanon	white	-	-	-	-	SLOS	ascertainment family analysis; failure to thrive, mild splenomegaly, moderate global cognitive delay, chronic severe behavioral problems, attention deficit disorder, 2, 3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001981	-	-	-	F	?	Austria	-	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001982	-	-	brother of A29	M	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly, polydactyly, heart anomaly, severe hypospadia, mikrocephalie	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001983	-	-	sister of A28	F	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	ascertainment family analysis; 2-3 toe syndactyly; microcepahly,	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001984	-	-	-	F	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly; microcepahly,	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001985	-	-	-	F	?	Switzerland;Poland	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly; microcephaly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001986	-	-	-	F	?	Switzerland;Poland	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly; microcepahly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001987	-	-	fetus for retrospective diagnostic; gender is not sure	?	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	diagnosis fetal	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001988	-	PubMed: Ko 2010	Patient from Ko et al. 2010	M	?	Korea, South (Republic)	Asian	-	-	-	-	SLOS	neonatal cholestasis, microcephaly, micrognathia, a small nose with anteverted nares, ambiguous genitalia, cleft palate, simian line, (bilateral) 2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001989	-	-	-	F	?	Austria;Poland	white	-	-	-	-	SLOS	2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001990	-	-	-	?	?	Germany	white	-	-	-	-	SLOS	diagnosis fetal; ascertainment clinical presentation; 2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001991	-	-	-	F	?	Moldova;Germany	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001992	-	-	-	F	?	Ireland	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	1	1	Division of Human Genetics, Innsbruck
00001993	-	-	-	M	?	Ireland	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001994	-	-	-	F	?	Ireland	white	-	-	-	-	SLOS	ascertainment clinical presentation; seizures, 2-3 toe syndactyly, simple cystic kidney disease	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001995	-	-	-	M	?	Spain	white	-	-	-	-	SLOS	ascertainment clinical presentation	APOE, DHCR7	APOE, DHCR7	3	1	Division of Human Genetics, Innsbruck
00001996	-	-	-	M	?	Spain	white	-	-	-	-	SLOS	ascertainment clinical presentation; cleft palate, polydactyly, 2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001997	-	-	-	M	?	Germany	white	00y01m15d	-	-	-	SLOS	ascertainment clinical presentation; microcephaly, 2-3 toe syndactyly, multiple facial dysmorphisms, cataracts, hexadactyly, cleft hard palate, progressive liver disease, ambigious genitalia	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001998	-	-	-	M	?	United Kingdom (Great Britain);Cyprus	white	-	-	-	-	SLOS	ascertainment clinical presentation	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00001999	-	-	-	M	?	Germany	white	-	-	-	-	SLOS	2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002000	-	-	-	?	?	Germany	white	-	-	-	-	SLOS	diagnosis fetal	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002001	-	-	-	F	?	Turkey	white	-	-	-	-	SLOS	2-3 toe syndactyly, blond hair	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002002	-	-	-	F	?	Spain	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly	APOE, DHCR7	APOE, DHCR7	3	1	Division of Human Genetics, Innsbruck
00002003	-	-	-	F	?	Spain	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002004	-	-	Fetus for respective diagnostic gender is not sure	?	?	Spain	white	-	-	-	-	SLOS	diagnosis fetal; ascertainment clinical presentation; 2-3 toe syndactyly	APOE, DHCR7	APOE, DHCR7	3	1	Division of Human Genetics, Innsbruck
00002005	-	:	-	M	?	Germany	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002006	-	-	Nijmegen Therapy study, diet with cholesterol and simvastatin	M	?	Austria	white	-	-	-	-	SLOS	ascertainment clinical presentation; head circumference < 3 perc., seizures, 2-3 toe syndactyly, hypoplasia of lung, simple hypospadia	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002007	-	-	-	F	?	Spain	white	-	-	-	-	SLOS	ascertainment clinical presentation; head circumference < -1 SD, ptosis, anteverted nares, 2-3 toe syndactyly, pyloric stenosis	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002008	-	-	since 14 years cholesterol supplementation	F	?	Spain	white	-	-	-	-	SLOS	ascertainment clinical presentation; head circumference < -1 SD, ptosis, anteverted nares, cataracts, 2-3 toe syndactyly, clubfoot, pyloric stenosis	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002009	-	-	since 13 years cholesterol supplementation	M	?	Spain	white	-	-	-	-	SLOS	ascertainment clinical presentation; head circumference < -3 SD, ptosis, anteverted nares, 2-3 toe syndactyly, clubfoot, pyloric stenosis	APOE, DHCR7	APOE, DHCR7	3	1	Division of Human Genetics, Innsbruck
00002010	-	-	Fetus for retrospective diagnostic gender is not sure	?	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002011	-	-	-	F	?	Germany	white	-	-	-	-	SLOS	no 2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002012	-	-	Fetus for retrospective diagnistic gender is not sure	?	?	Germany	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002013	-	-	-	F	?	Germany	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly	APOE, DHCR7	APOE, DHCR7	3	1	Division of Human Genetics, Innsbruck
00002014	-	-	-	F	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002015	-	-	Fetus for retrospective diagnostic gender is not sure	?	?	Germany	white	-	-	-	-	SLOS	diagnosis fetal	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002016	-	-	-	M	?	Germany	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002017	-	-	-	?	?	Germany	white	-	-	-	-	SLOS	diagnosis fetal; 2-3 toe syndactyly, failure to thrive	DHCR7	DHCR7	1	1	Division of Human Genetics, Innsbruck
00002018	-	-	-	M	?	Germany	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	1	1	Division of Human Genetics, Innsbruck
00002019	-	-	diet with cholesterol	M	?	Finland;Morocco	white	-	-	-	-	SLOS	ascertainment clinical presentation; head circumference < 2 perc., 2-3 toe syndactyly, high arched palate with posterior cleft, micrognathia, wide nasal root, simple hypospadia	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002020	-	-	see paper S. Kalb et al 2010	M	?	Turkey	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002021	-	-	-	M	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002022	-	-	-	M	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002023	-	-	-	F	?	Hungary	white	-	-	-	-	SLOS	died 2006	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002024	-	-	-	F	?	Switzerland	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002025	-	-	fetus died	F	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002026	-	-	-	F	?	Spain	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002027	-	-	-	F	?	Italy	white	-	-	-	-	SLOS	ascertainment clinical presentation; seizures, bifid uvula, minimal 2-3 toe syndactyly, pyloric stenosis	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002028	-	-	-	M	?	Germany	white	-	-	-	-	SLOS	ascertainment clinical presentation; corpus callosum hypoplasia, polydactyly	APOE, DHCR7	APOE, DHCR7	3	1	Division of Human Genetics, Innsbruck
00002029	-	-	-	M	?	Germany	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002030	-	-	-	M	?	Germany	white	-	-	-	-	SLOS	ascertainment clinical presentation; seizures, head circumference <3 perc., cleft hard palate, clubfoot, 2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002031	-	-	-	F	?	Italy	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly	APOE, DHCR7	APOE, DHCR7	3	1	Division of Human Genetics, Innsbruck
00002032	-	-	-	F	?	Italy	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly	APOE, DHCR7	APOE, DHCR7	3	1	Division of Human Genetics, Innsbruck
00002033	-	-	-	M	?	Italy	white	-	-	-	-	SLOS	ascertainment clinical presentation; no 2-3 toe syndactyly	APOE, DHCR7	APOE, DHCR7	3	1	Division of Human Genetics, Innsbruck
00002034	-	-	-	M	?	Italy	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002035	-	-	-	F	?	Italy	white	-	-	-	-	SLOS	ascertainment clinical presentation	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002036	-	-	-	M	?	Italy	white	-	-	-	-	SLOS	ascertainment clinical presentation	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002037	-	-	-	M	?	Italy	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002038	-	-	fetus for retrospective diagnostic gender is not sure	?	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002039	-	-	-	M	?	United States	white	-	-	-	-	SLOS	ascertainment clinical presentation; 2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002040	-	-	-	M	?	United States	white	-	-	-	-	SLOS	2-3 toe syndactyly	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002041	-	-	-	M	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	ascertainment unknown	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002042	-	-	-	F	?	Germany	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002043	-	-	-	M	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002044	-	-	-	F	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002045	-	-	-	F	?	Italy	white	-	-	-	-	SLOS	2-3 toe syndactyly, seizures, hypoplasia of the corpus callosum	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002046	-	-	-	M	?	Italy	white	-	-	-	-	SLOS	ascertainment clinical presentation; polydactyly, 2-3 toe syndactyly, simple hypospadia	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002047	-	-	brother of A194	M	?	Poland	white	-	-	-	-	SLOS	ascertainment clinical presentation	APOE, DHCR7	APOE, DHCR7	3	1	Division of Human Genetics, Innsbruck
00002048	-	-	-	F	?	-	-	-	-	-	-	SLOS	ascertainment clinical presentation	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002049	-	-	-	M	?	Spain	white	-	-	-	-	SLOS	ascertainment clinical presentation; head circumference < -3 SD, severe hypotonia, anteverted nares, coloboma, 2-3 toe syndactyly, polydactyly, reflux vesicoureteral, simple hypospadia	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002050	-	-	-	M	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	ascertainment clinical presentation; mild	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002051	-	-	-	?	?	United States	white;Jewish-Ashkenazi	-	-	-	-	SLOS	-	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002052	-	PubMed: Witsch-Baumgartner 2000	-	?	?	United States	white	-	-	-	-	SLOS	diagnosis fetal; ascertainment clinical presentation	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002053	-	PubMed: Witsch-Baumgartner 2000	-	?	?	United Kingdom (Great Britain)	white	-	-	-	-	SLOS	ascertainment clinical presentation	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002054	-	PubMed: Witsch-Baumgartner 2000	-	?	?	-	-	-	-	-	-	SLOS	ascertainment clinical presentation; mild	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck
00002055	-	PubMed: Witsch-Baumgartner 2000	-	?	?	-	-	-	-	-	-	SLOS	ascertainment clinical presentation; mild	DHCR7	DHCR7	2	1	Division of Human Genetics, Innsbruck

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		Next ›	Last »

Global Variome shared LOVD